Human Molecular Genetics, Vol 5, 821-825, Copyright © 1996 by Oxford University Press
E Mornet, C Chateau, MC Hirst, F Thepot, A Taillandier, O Cibois and JL Serre
In order to characterize the dynamics of CGG repeat instability at the
fragile X syndrome locus (FMR1 gene), we have used small pool PCR to
estimate the mutation rate within germline (sperm) and somatic tissue
(leukocytes) of two normal males, one carrying the most common 29 CGG
repeats allele, the other carrying a borderline normal-premutated allele of
55 repeats. Large contractions and moderate expansions of the repeat were
found in sperm and blood for the 55 repeat allele while almost no variation
was found in sperm or blood with the 29 repeat allele. Somatic blood DNA
exhibited fewer expansions and contractions than sperm. Contractions were
more frequent than expansions, and all the expansions were found in the +4
to +10 repeats range, while most of the contractions were found in the -10
to -30 range, suggesting that a subset of contractions results from a
distinct mechanism. These results also suggest that the dynamics of the CGG
repeat could be partly due to germline instability within the high normal
or premutated ranges.
ARTICLES
Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
Centre d'Etudes de Biologie Prenatale SESEP, Universite de Versailles- Saint Quentin, France.
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